Varaico: Literature-Extracted Genetic Variants

Gene:ATP6V0A2
Variant:p.G416R
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ATP6V0A2

NM_012463.4:p.G416R

Associated Papers

Whole-exome sequencing analysis identifies distinct mutational profile and novel prognostic biomarkers in primary gastrointestinal diffuse large B-cell lymphoma.

Li SS et al.

Experimental Hematology & Oncology, 2022

36243813 (PubMed )
Supplement: 40164_2022_325_MOESM2_ESM.xlsx › Sheet1

Review of clinical and molecular variability in autosomal recessive cutis laxa 2A.

Morlino S et al.

American Journal of Medical Genetics. Part A, 2021

Spontaneous Coronary Artery Dissection: Insights on Rare Genetic Variation From Genome Sequencing.

Carss KJ et al.

Circulation. Genomic and Precision Medicine, 2020

33125268 (PubMed )
Supplement: hcg-13-e003030-s001.pdf

A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.

Zheng J et al.

Molecular Genetics & Genomic Medicine, 2019

31165590 (PubMed )
Supplement: MGG3-7-e00748-s004.xlsx › Variants_information

Further characterization of ATP6V0A2-related autosomal recessive cutis laxa.

Fischer B et al.

Human Genetics, 2012

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."